Introduction of OTC Gene into Ornithine Transcarbamylase (OTC) Deficient (spf-ash) Mice
January 1991
New to Arginine? There is a guide in the encyclopedia. Read the guide → Studysummary In this study, introducing the rat OTC gene into spf-ash mice led to increased OTC activity and normalized hair growth and biochemical markers like urinary orotic acid and serum citrulline, partially correcting the symptoms of OTC deficiency.
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The study focused on the sparse fur with abnormal skin and hair (spf-ash) mouse, a model for human ornithine transcarbamylase (OTC) deficiency, characterized by hyperammonemia, orotic aciduria, and delayed hair growth. Researchers introduced the rat OTC (rOTC) gene into spf-ash mice, resulting in hemizygous spf-ash mice with significantly increased OTC activities in the liver and small intestine compared to spf-ash mice, though still lower than controls. These genetically modified mice exhibited normal hair growth, normalized urinary orotic acid excretion, and serum citrulline and arginine concentrations, indicating a successful amelioration of the deficiency symptoms.